AAV-mediated gene therapy for molybdenum cofactor deficiency type B

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The molybdenum cofactor deficiencies are extremely rare, autosomalrecessively inherited diseases, which by elevated sulfite levels lead to progressive neurodegeneration. For the most common form of the disease (type A) a biochemical substitutional therapy is available. Most of the remaining cases represent a type B molybdenum cofactor deficiency, which is not causally treatable. In this respect, AAV-mediated gene therapy is the most promising perspective, which was already demonstrated in an animal model for type very effectively. Transfer of this successful principle hitherto was hampered by the absence of a suitable animal model for this subform. This model is now available in the group of the applicant. Since the successful gene therapy of type A was also demonstrated by this group, the rapid transfer of this method to the hitherto incurable type B seems within reach. This study is meant to proof the principle and to study all preclinically amenable parameters. At the end of the project a clinical study should be feasible.